The Moment Our Family Story Changed

To everyone touched by transthyretin (ATTR) amyloidosis; through diagnosis, genetics, or love, come sit with me for a moment.

Olive Garden, early 2014. It’s where my family often gathered for important events. Happy ones. Birthdays. Graduations. You get the picture. But not that day. That day there would be more.

We noticed my Dad's ATTR symptoms

That day, I knew Dad had been sick for months:

• Shortness of breath
• Uncontrollable rapid heartbeat, even at rest
• Horrible consistent bloating in his stomach
• Pneumonia that kept coming back

So, at the start of dinner, I hid my anxiety like I always did behind my sense of humor as my family was accustomed to. Hurry up think of something sarcastic and witty, Erin, be the clown that you are, keep everyone laughing, distracted and ignoring the elephant in the room, Deep down I knew the other reason we were all here. Dad finally had answers to the questions of why he had been feeling so badly.

Unfortunately, I was right.

Sharing a diagnosis with family members

Sitting directly across the table from my parents; I saw mom’s pursed lips looking down in her lap worried due to the weight of the words she knew were about to be said, but stoic as always. While dad began to speak- matter of factly and with the demeanor of the reassuring leader that he was. That day hereditary transthyretin amyloidosis V122I (pV142I) entered my life unannounced, unwelcomed, and likely here to stay for good.

You would think that I would remember the finest details of every word that he spoke.

But I do not.

What I do remember are fragments of dialogue and probably not exact.

• “…not the one that would mean I would be gone in three months”
• “…older adults”, which mom chimed in with “in men mostly”
• “…my doctors have told me that my children should think about genetic testing”

What did I let myself hear?

• Predominately in older men.
• He does not have the worst form of this disease.

I translated that to mean:

• “Your dad is sick but he will be ok. It's not the worst form of amyloidosis, and he just needs our support.”
• “You’re a woman in your late 30’s in good health, no need to test right now."

And with that, and words of support from us, and the promise that he would keep us updated on the next steps, we carried on with a casual dinner as though we had just discussed the weather previously.

Looking back

They say it is easier to have better clarity when something is behind you. There is always the question… knowing what you know now. would you have done things differently?

I would like to think idealistically and that I would have been more proactive, truly comprehend what my father’s words meant, and immediately been the champion for my siblings and I to be genetically tested.

Denial is a human response

But the reality is denial is part of it too. It’s real and it’s human.

It’s how we protect ourselves from what we are not yet able to face completely.

What I have learned since is that during that time of stress and uncertainty, we can still continually empower ourselves with information at our own pace.

Information that may change our decision at any moment.

We can also reach out and accept support from others.

Most of all we can be patient with ourselves with wherever we, or our loved ones are in the process.

Let’s journey together.